Key Points

Screening the general population for mutations in specific genes is more cost-effective in detecting people at risk for cancer and prevents more breast and ovarian cancers compared to only screening individuals with a personal or family history of these diseases.

Implementing a population-based screening program to test women over age 30 could result in thousands of fewer cases of ovarian and breast cancer.

Screening the general population for mutations in specific genes could also achieve long-term cost efficiencies in the health-care system.

The cost-effectiveness of population-based panel testing for the known high- and moderate-penetrance ovarian and breast cancer mutations, including BRCA1, BRCA2,RAD51C, RAD51D, BRIP1, and PALB2, was not known. Now, a study evaluating the cost-effectiveness of screening the general population for ovarian and breast cancer–related genes compared to only screening high-risk individuals for these cancers has found that population-based testing is cost effective and prevented more cancers and deaths than only screening women with a personal or family history of these cancers. In addition to preventing cancer and cancer death, screening the general population for mutations in specific genes could achieve long-term cost efficiencies in the health-care system. The study by Manchanda et al is published in the Journal of the National Cancer Institute.

Study Methodology

The researchers used a decision-analytic model comparing the lifetime costs and effects of genetically testing all non-Jewish women aged 30 years or older for BRCA1, BRCA2,RAD51C, RAD51D, BRIP1, and PALB2 mutations compared with the current practice of clinical criteria/family history–directed testing based on ≥ 10% BRCA1/BRCA2 mutation probability alone. The analyses were done on populations in the United Kingdom and the United States.

The model incorporated the increased risk of cardiovascular mortality (absolute increase = 3.03%) reported with premenopausal bilateral oophorectomy in women who do not take hormone replacement therapy. Model outcomes included ovarian cancer, breast cancer, and excess death from heart disease.

Quality-adjusted life-years (QALYs), ovarian cancer incidence, breast cancer incidence, and incremental cost-effectiveness ratio (ICER) were calculated. The time horizon is lifetime, and the perspective is payer.